ClinVar Miner

List of variants in gene CLN5 reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980 0.00004
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979 0.00003
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139 0.00002
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971 0.00002
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
NM_006493.4(CLN5):c.191del (p.Pro64fs) rs1555273882
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+1G>A rs1555274014
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) rs1555274337
NM_006493.4(CLN5):c.705_706del (p.Leu236fs) rs1555274343
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) rs1555274344
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.906del (p.Glu303fs) rs1555274369
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) rs750935331
NM_006493.4(CLN5):c.995del (p.Leu332fs) rs1555274387

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